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Which are the symptoms of Pyruvate Kinase Deficiency?

See the worst symptoms of affected by Pyruvate Kinase Deficiency here

Pyruvate Kinase Deficiency symptoms

Symptoms of Pyruvate Kinase Deficiency


Pyruvate Kinase Deficiency (PKD) is a rare genetic disorder that affects the red blood cells and leads to a condition known as hemolytic anemia. This disorder is caused by mutations in the PKLR gene, which is responsible for producing an enzyme called pyruvate kinase. Pyruvate kinase plays a crucial role in the energy production process within red blood cells.



Anemia: One of the primary symptoms of PKD is anemia. The defective pyruvate kinase enzyme impairs the red blood cells' ability to produce energy, leading to their premature destruction. This results in a low red blood cell count, causing fatigue, weakness, and shortness of breath.



Jaundice: Another common symptom of PKD is jaundice. When red blood cells break down prematurely, they release a substance called bilirubin. Excessive bilirubin in the bloodstream can cause yellowing of the skin and eyes, known as jaundice.



Splenomegaly: PKD can also cause enlargement of the spleen, a condition called splenomegaly. The spleen plays a crucial role in filtering and removing damaged or old red blood cells from circulation. In PKD, the spleen becomes overactive due to the increased destruction of red blood cells, leading to its enlargement.



Gallstones: In some cases, PKD can lead to the formation of gallstones. The excessive breakdown of red blood cells releases bilirubin, which can accumulate in the gallbladder and form stones. Gallstones can cause abdominal pain, nausea, and jaundice.



Irritability and developmental delays: PKD can affect infants and young children, leading to irritability, fussiness, and developmental delays. The lack of sufficient red blood cells and oxygen supply to the body's tissues can impact a child's growth and development.



Increased susceptibility to infections: Individuals with PKD may have a weakened immune system, making them more prone to infections. The reduced number of red blood cells and impaired immune function can compromise the body's ability to fight off pathogens.



Complications during pregnancy: In women with PKD, pregnancy can pose additional risks. The increased demand for red blood cells during pregnancy can exacerbate the symptoms of anemia and lead to complications such as preterm labor, low birth weight, and fetal distress.



Other symptoms: Some individuals with PKD may experience additional symptoms such as pale skin, dizziness, rapid heartbeat, enlarged liver, and bone abnormalities.



It is important to note that the severity and specific symptoms of PKD can vary widely among affected individuals. Some individuals may have mild symptoms and lead relatively normal lives, while others may experience more severe complications.


Diseasemaps
3 answers
hemolytic anemia ,jaundice, iron overload

Posted Jan 16, 2019 by dhruv 400
Translated from spanish Improve translation
Hemolytic Anemia
Low levels of hemoglobin
High % of reticulocytes
Jaundice
Need for Blood Transfusions
High levels of bilirubin
Enlargement of the spleen
Stones in the gallbladder

Posted Mar 22, 2017 by JuanDPK 500

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